ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.20335A>T (p.Ser6779Cys) (rs149470241)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Biesecker Lab/Clinical Genomics Section,National Institutes of Health RCV000082369 SCV000055058 likely benign not provided 2013-06-24 criteria provided, single submitter research
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000039940 SCV000063631 likely benign not specified 2018-11-26 criteria provided, single submitter clinical testing The p.Ser5535Cys variant in TTN is classified as likely benign because it has be en identified in 0.1% (142/124290) of European chromosomes by gnomAD (http://gno ACMG/AMP Criteria applied: BS1.
GeneDx RCV000039940 SCV000238281 likely benign not specified 2017-08-01 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000082369 SCV000335993 uncertain significance not provided 2016-01-14 criteria provided, single submitter clinical testing
Invitae RCV000082369 SCV000555140 likely benign not provided 2019-03-05 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000082369 SCV000616017 likely benign not provided 2018-05-16 criteria provided, single submitter clinical testing

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